Thursday, April 28, 2011

It's very strange, this roller coaster I'm on.

It's been about two weeks now since we got Olivia's diagnosis. Our emotions don't seem to settle in one place for very long, pinging from sadness to acceptance to confusion to denial so fast that it's dizzying. And tears. Lots of tears. There has never been the question, "Can we do this?" Of course we can. We already are. Our abilities are not question. It is the unknown that is sheer torture.

Her first eye scan is next week with additional tests and scans to follow soon. As much as I'd like to believe that she is fine, she will be okay, I honestly don't know that. We are optimistic about things we have seen so far in her physical and cognitive development, absolutely. But as far as all this eye/bone tumor/health stuff is concerned? I'm considerably less reassured.

The Husband and I often talk about the future. Hers and ours. What will happen when she goes to school? Will kids be mean? Where will her physical symptoms be at that point? Will she be able to lead a a normal life? Will she get married? Will she have children? They are questions we almost don't dare ask, let alone try to honestly answer. For The Husband and I, our future is a little unknown, too. Dr. G wants us to be tested to see if all of this is genetic, to see if we were to have more children if they would also be affected. What if it is? What does that mean for the future of our family? Would it mean we would have no more children? We go back an forth over this, agonizing over the what-ifs, reaching no acceptable conclusion.

Maybe that's the problem with all of this: there is no acceptable conclusion to any given scenario.

I'm a straightforward kind of girl. I like rules and guidelines. I like to know exactly what is and isn't, what I can and can not, and what will and won't in all aspects of my life. I'm completely uncomfortable being thrown into consuming ocean of unknowns. It terrifies me in ways I had hoped never to experience. But I have been thrown, and I need to accept that and do everything in my power to keep treading water. There would be no excuse for not doing at least that

Friday, April 15, 2011

**I apologize for such a mass update for so many friends, loved ones, and family members. I'm sorry to do it this way, but I can bring myself to tell this over and over. Up to this point it has been just a few family members have been informed. Again, I apologize for that.

When Olivia was born, her inability eat, rabid breathing, and her adorable, yet troublesome, squeaking were our first indicators that something wasn't quite right. Diagnosis: Laryngomalacia. It was manageable and would likely resolve on it's own. It posed some problems, but we managed.

She squeaked through the 11 months, RSV and hospitalization, numerous illness, and no less than 11 ear infections. When she was finally evaluated for tubes, her wonderful ENT did a scope to check things out before doing any procedure. Typically children with problems like hers needed to be intubated while under anesthesia and he wanted to be prepared. After he finished the scope, he sat silently for a long time before telling me "something isn't quite right." He was uncomfortable with what he was seeing and sent us to another specialist.

A few months later, another hospital stay, an MRI, an echocardiogram, swallow study, and gastric emptying study, we were sent home with Olivia tethered to an oxygen tank.

Over the last six months, we have adapted to her therapy schedules and goals, learned to balance our heavy load of supplies any time we go somewhere, and adjusted to the changes of her needs.

About 2 months ago, I had noticed that Olivia was having a harder time recovering when she would get upset or cry hard enough that her O2 sats would drop. Her sleeping patterns were being more inconsistent than normal. I called her specialist, Dr. A, and we were able to see her a few days later.

During the appointment, Dr. A asked the normal barrage of questions and I filled her in on the changes, what the problems were, and what areas Liv was having progress in. Dr. A sat quietly for a moment and then asked me, "Does Olivia look like you or your husband?" I stumbled over my answer, trying not to give an validity to her question before finally saying, "No, she doesn't." I felt the anxiety seize my heart and take hold. I knew where this was going.

"I want Olivia to see a geneticist," She said with the careful measured calm of a good doctor.

"I want to see if there is any underlying reason behind all of these problems."

Geneticist. Geneticist. I have worked with enough special needs kids in my life to know the significance of what seeing a geneticist means: syndrome.

That word screamed over and over inside my head as we stumbled out of her office and made our way home. This could mean a thousand different things, not one of which were appealing or satisfactory answers. But still, a part of me felt that this was right.

Three weeks ago, we met our genetic counselor, Sarah. She took our detailed medical histories and drew Olivia's blood for a microarray blood test. She arranged for us to meet with a geneticist, Dr. Gm from Seattle Children's to discuss the findings or do further testing if the microarray proved inconclusive.

Wednesday morning, Olivia and I went to the hospital to meet Dr. G. The moment he waked into the room, I knew. A wave of peace washed over me and I heard in my mind, "Yes, this man will set us on the right path for Olivia." I can count the number of times on one hand that I have had such a distinct spiritual confirmation like that.

Sarah and one other genetic counselor joined us in the room. Sarah sat next to me while the other played with my sweet Livi so that Dr. G could have my full attention. We discussed the problems that she has had and what things are being addressed.

"Well," he said, "you're daughter has all these problems for a reason. I have received her blood work, and we have found something."

I felt the blood drain from my face. "Okay," was all I could say.

I won't try to go into the detail of the conversation. I'm not sure that I heard most of it anyway. But this is what we know. Olivia has a very, very rare chromosomal disorder called 13q Deletion. As I understand it, at her 13th chromosome, there are breakpoints. Within those breakpoints are about 102 genes. That missing material of those genes is what is causing many of her problems. There are learning disabilities and developmental delays in addition to the various health problems. We aren't sure to what degree this will affect her, although she has already been in various therapies for several months already addressing these issues. Most notable, Olivia is missing the RB1 gene. Because of this specific deletion, Olivia is at an incredibly hi risk of retinoblastoma (eye cancer) bone tumors, and other related tumors. While the 13q deletion syndrome is not fatal, complications from it can be. We are being sent to see special teams in Seattle at an urgent status to start doing these scans. She will have to have these scans every 3 months for several years.

As we spoke, Dr. G said that while he was "mystified" by the breathing problems she seems to have, he was "completely amazed" that she was walking and that she can speak any words. He informed me that many of the cases he reviewed about this, many of the children were barely sitting up by themselves as 19 months and not walking or talking until 3 or 4 years old. He then said in his soft British accent, "I am even further amazed that your daughter is so beautiful. Most children with 13q have facial deformities."

It was at that point that I finally began to weep. I looked over at Olivia toddling around the room, her beloved puppy in one arm, happily opening and closing every cupboard she came across. I instantly felt overwhelmed with gratitude for the sweet tender mercies of her beauty, of her good natured demeanor, and her accomplishments.

As we waited for the elevator, Olivia spotted the giant fish tank the have on the peds floor and began pointing and making her "fish face." She put one hand on my tear stained cheek and pointed for me to look. I looked at her eyes, her excitement, and couldn't help but smile. She is still our same sweet Olivia. Nothing has changed within her. She is as happy as she ever has been. There is an overwhelming comfort and peace in that knowledge. We have a long, difficult journey ahead of us that is just getting started. So I am going to remember that knowledge, I am clinging to it.